A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727421



Internal ID10311057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330851..37331093hg38UCSC Ensembl
Outerchr4:37332473..37332715hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv824e201
Supporting Variantsessv6923407, essv6810881, essv6817498, essv6848251, essv6929905, essv6670219, essv6711342, essv6844503, essv6724532, essv6973798, essv6906898, essv6942716, essv6889675, essv6864913, essv6854414, essv6736564
SamplesSSM087, SSM097, SSM050, SSM042, SSM023, SSM029, SSM089, SSM003, SSM031, SSM014, SSM086, SSM085, SSM020, SSM007, SSM078, SSM076
Known GenesKIAA1239
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2727421
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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