Variant Details

Variant: esv2716795

Internal ID

10300431

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:119529987..119592848	hg38	UCSC Ensembl
Outer	chr1:120072610..120135471	hg19	UCSC Ensembl

Cytoband

1p12

Allele length

Assembly	Allele length
hg38	62862
hg19	62862

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv32e201

Supporting Variants

essv6725942, essv6675293, essv6807452, essv6810412, essv6804478, essv6696364, essv6669921, essv6874784, essv6853378, essv6738896, essv6917525, essv6871785, essv6669933, essv6947928, essv6733555, essv6729711, essv6972516, essv6817453, essv6864073, essv6950645, essv6749409, essv6813241, essv6946817, essv6699694, essv6747862, essv6886055, essv6766615, essv6874785, essv6868784, essv6793390, essv6777013, essv6679257, essv6719542, essv6906190, essv6840055, essv6889090, essv6785454, essv6750679, essv6756622, essv6880495, essv6817464, essv6968024, essv6714329, essv6753579, essv6816704, essv6917526, essv6825075, essv6941879, essv6843961, essv6917440, essv6749398, essv6719531, essv6807042, essv6801691, essv6853377, essv6714330

Samples

SSM059, SSM008, SSM071, SSM075, SSM046, SSM064, SSM087, SSM097, SSM039, SSM009, SSM073, SSM074, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM029, SSM096, SSM089, SSM017, SSM094, SSM032, SSM003, SSM067, SSM001, SSM014, SSM033, SSM006, SSM085, SSM007, SSM078, SSM005, SSM080, SSM077, SSM076, SSM010, SSM091, SSM025, SSM043, SSM052, SSM049, SSM056

Known Genes

HSD3BP4

Method

Sequencing

Analysis

Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads

Platform

Illumina HiSeq 2000

Comments

Reference

Wong_et_al_2012b

Pubmed ID

23290073

Accession Number(s)

esv2716795

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	47
Observed Complex	0
Frequency	n/a