A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727426



Internal ID10311062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37331215..37331505hg38UCSC Ensembl
Outerchr4:37332837..37333127hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914631, essv6892996, essv6854415, essv6956090, essv6850664, essv6929907, essv6730367, essv6864915, essv6869288, essv6962810, essv6836908, essv6722750, essv6938459
SamplesSSM083, SSM027, SSM045, SSM011, SSM087, SSM090, SSM047, SSM026, SSM089, SSM020, SSM016, SSM022, SSM098
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)esv2727426
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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