A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727424



Internal ID10311060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330857..37331118hg38UCSC Ensembl
Outerchr4:37332479..37332740hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv824e201
Supporting Variantsessv6923407, essv6817498, essv6711342, essv6973798, essv6906898, essv6942716, essv6889675, essv6864913
SamplesSSM097, SSM042, SSM023, SSM029, SSM089, SSM003, SSM014, SSM078
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)esv2727424
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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