A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727419



Internal ID10311055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330844..37331093hg38UCSC Ensembl
Outerchr4:37332466..37332715hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv824e201
Supporting Variantsessv6923407, essv6810881, essv6817498, essv6914628, essv6848251, essv6929905, essv6896390, essv6670219, essv6711342, essv6844503, essv6724532, essv6973798, essv6906898, essv6942716, essv6889675, essv6864913, essv6854414
SamplesSSM087, SSM097, SSM042, SSM023, SSM029, SSM089, SSM003, SSM031, SSM014, SSM086, SSM085, SSM020, SSM007, SSM078, SSM016, SSM076, SSM099
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)esv2727419
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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