Variant Details

Variant: esv3325872

Internal ID

15172853

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:233383391..233383402	hg38	UCSC Ensembl
Inner	chr1:233383381..233383409	hg38	UCSC Ensembl
Outer	chr1:233383370..233383420	hg38	UCSC Ensembl
	chr1:233519137..233519148	hg19	UCSC Ensembl
Inner	chr1:233519127..233519155	hg19	UCSC Ensembl
Outer	chr1:233519116..233519166	hg19	UCSC Ensembl
	chr1:231585760..231585771	hg18	UCSC Ensembl
Inner	chr1:231585778..231585750	hg18	UCSC Ensembl
Outer	chr1:231585739..231585789	hg18	UCSC Ensembl

Cytoband

1q42.2

Allele length

Assembly	Allele length
hg38	289
hg19	289
hg18	289

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv8903516, essv8903543, essv8903530, essv8903510, essv8903548, essv8903511, essv8903545, essv8903542, essv8903537, essv8903532, essv8903535, essv8903550, essv8903540, essv8903539, essv8903521, essv8903518, essv8903533, essv8903534, essv8903522, essv8903524, essv8903528, essv8903546, essv8903544, essv8903507, essv8903529, essv8903551, essv8903549, essv8903526, essv8903519, essv8903512, essv8903520, essv8903517, essv8903515, essv8903541, essv8903538, essv8903508, essv8903523, essv8903509, essv8903513, essv8903527, essv8903531

Samples

NA18508, NA18980, NA18561, NA18507, NA11931, NA18545, NA18959, NA18526, NA07357, NA18944, NA18550, NA18519, NA18558, NA18960, NA18571, NA12287, NA12761, NA12044, NA12828, NA18638, NA11993, NA10847, NA12489, NA18579, NA18948, NA18537, NA18573, NA19225, NA18593, NA18576, NA18608, NA18953, NA18542, NA19108, NA18961, NA19093, NA18552, NA19129, NA07000, NA18562, NA18577

Known Genes

KIAA1804

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3325872

Frequency

Sample Size	185
Observed Gain	41
Observed Loss	0
Observed Complex	0
Frequency	n/a