A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732406



Internal ID9966725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:7751844..7752084hg38UCSC Ensembl
Outerchr10:7793807..7794047hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900370, essv6890960, essv6850622, essv6856646, essv6908501, essv6866693, essv6688009, essv6976489, essv6887736, essv6819262, essv6815157, essv6861946, essv6838302, essv6672584, essv6965201, essv6958666, essv6862831, essv6879244
SamplesSSM100, SSM083, SSM027, SSM011, SSM087, SSM097, SSM093, SSM088, SSM029, SSM096, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM078, SSM077
Known GenesKIN
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)esv2732406
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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