Variant Details

Variant: esv3617105

Internal ID

7003991

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr8:47906393..47907365	hg38	UCSC Ensembl
Inner	chr8:47906395..47907363	hg38	UCSC Ensembl
Outer	chr8:47906391..47907367	hg38	UCSC Ensembl
	chr8:48818953..48819925	hg19	UCSC Ensembl
Inner	chr8:48818955..48819923	hg19	UCSC Ensembl
Outer	chr8:48818951..48819927	hg19	UCSC Ensembl

Cytoband

8q11.21

Allele length

Assembly	Allele length
hg38	973
hg19	973

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv13192467, essv13192449, essv13192500, essv13192435, essv13192528, essv13192490, essv13192505, essv13192428, essv13192517, essv13192444, essv13192501, essv13192507, essv13192518, essv13192486, essv13192497, essv13192456, essv13192489, essv13192469, essv13192427, essv13192453, essv13192424, essv13192498, essv13192431, essv13192446, essv13192440, essv13192514, essv13192443, essv13192519, essv13192429, essv13192520, essv13192473, essv13192512, essv13192447, essv13192492, essv13192525, essv13192502, essv13192522, essv13192484, essv13192523, essv13192451, essv13192464, essv13192421, essv13192474, essv13192426, essv13192442, essv13192475, essv13192462, essv13192452, essv13192491, essv13192510, essv13192487, essv13192509, essv13192455, essv13192529, essv13192437, essv13192470, essv13192454, essv13192503, essv13192457, essv13192495, essv13192422, essv13192465, essv13192430, essv13192445, essv13192461, essv13192511, essv13192504, essv13192508, essv13192483, essv13192485, essv13192439, essv13192516, essv13192417, essv13192436, essv13192494, essv13192478, essv13192472, essv13192493, essv13192463, essv13192423, essv13192434, essv13192482, essv13192515, essv13192477, essv13192459, essv13192496, essv13192527, essv13192432, essv13192480, essv13192468, essv13192433, essv13192441, essv13192419, essv13192499, essv13192471, essv13192481, essv13192418, essv13192420, essv13192450, essv13192425, essv13192488, essv13192524, essv13192448, essv13192460, essv13192513, essv13192526, essv13192506, essv13192476, essv13192521, essv13192479, essv13192458, essv13192466, essv13192438

Samples

HG01441, HG01098, HG01918, HG01356, HG01965, NA19664, NA18647, HG02298, HG01359, HG01348, NA20274, HG02262, HG02150, NA19795, NA18545, HG01944, HG02271, HG01051, HG01924, HG01571, HG01341, HG02312, HG01350, NA19764, NA19762, HG01277, HG02266, NA18618, HG02301, NA19771, NA19782, HG01982, HG01242, HG01110, HG02278, HG01893, HG01080, HG01281, NA19731, HG01308, HG01284, HG01892, NA19722, HG00637, HG02260, HG01967, HG00743, HG01942, HG01565, HG01136, HG00290, HG02265, NA19657, NA18538, HG01435, HG01171, HG02345, HG01938, HG01979, NA20314, HG01941, HG02102, HG01149, HG01948, HG01392, HG01311, HG01073, HG01414, NA19774, HG01197, HG02008, NA18532, HG01921, NA19752, NA19740, HG02292, NA19682, HG01572, HG01107, HG01204, HG01992, HG01363, HG02089, HG01954, NA19735, NA19747, NA19732, HG01253, HG02304, HG01272, HG01977, HG01357, HG01951, NA19786, NA19741, HG01991, NA19759, HG00672, HG01577, HG00478, NA19785, HG01917, HG02147, HG01935, NA19779, HG01055, HG00186, HG02291, HG02348, HG01920, NA19755, HG01923, HG01578

Known Genes

PRKDC

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3617105

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	113
Observed Complex	0
Frequency	n/a