Variant Details

Variant: esv3643602

Internal ID

7030361

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr19:8092084..8093534	hg38	UCSC Ensembl
Inner	chr19:8092091..8093527	hg38	UCSC Ensembl
Outer	chr19:8092077..8093541	hg38	UCSC Ensembl
	chr19:8156968..8158418	hg19	UCSC Ensembl
Inner	chr19:8156975..8158411	hg19	UCSC Ensembl
Outer	chr19:8156961..8158425	hg19	UCSC Ensembl

Cytoband

19p13.2

Allele length

Assembly	Allele length
hg38	1451
hg19	1451

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15987665, essv15987650, essv15987667, essv15987701, essv15987683, essv15987660, essv15987686, essv15987715, essv15987651, essv15987671, essv15987706, essv15987704, essv15987685, essv15987710, essv15987717, essv15987703, essv15987694, essv15987659, essv15987681, essv15987705, essv15987690, essv15987716, essv15987709, essv15987693, essv15987657, essv15987664, essv15987692, essv15987672, essv15987679, essv15987719, essv15987721, essv15987697, essv15987662, essv15987656, essv15987658, essv15987674, essv15987718, essv15987698, essv15987678, essv15987676, essv15987702, essv15987684, essv15987669, essv15987714, essv15987661, essv15987682, essv15987691, essv15987673, essv15987707, essv15987724, essv15987655, essv15987653, essv15987654, essv15987689, essv15987670, essv15987680, essv15987713, essv15987675, essv15987723, essv15987725, essv15987711, essv15987700, essv15987666, essv15987720, essv15987687, essv15987677, essv15987722, essv15987668, essv15987695, essv15987663, essv15987712, essv15987688, essv15987696, essv15987708, essv15987652, essv15987699

Samples

HG00881, HG00542, HG01795, HG02072, HG02385, NA18947, NA19066, HG02375, HG02026, HG01586, HG02122, HG02078, NA18625, HG02040, HG00449, NA18526, NA18633, NA18969, HG00663, HG01873, NA18944, NA18940, NA18597, HG00674, NA18982, NA18567, NA18619, HG01843, HG01599, HG02130, NA19088, NA18571, HG00867, HG02395, HG02067, HG02389, HG02187, HG01849, HG01046, HG02190, HG02178, NA19002, HG02409, HG00675, HG02166, HG00560, NA19091, NA19082, HG02070, HG01871, HG01857, HG01810, HG00583, NA18579, HG01808, NA18537, HG02364, NA18573, HG00956, HG02048, HG01811, NA18632, HG01597, NA18961, HG02049, HG02398, NA19078, HG02128, HG00446, HG01804, HG02396, HG01817, HG02182, HG00728, HG02353, HG00472

Known Genes

FBN3

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3643602

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	76
Observed Complex	0
Frequency	n/a