A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729439



Internal ID9963754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1117948..1118278hg38UCSC Ensembl
Outerchr10:1163888..1164218hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799831, essv6691279, essv6944491, essv6834563, essv6968285, essv6768498, essv6709194, essv6842079, essv6827318, essv6783150, essv6695137, essv6712674, essv6838272, essv6823264, essv6976425, essv6787366, essv6958611, essv6672535, essv6927605, essv6815133, essv6720327, essv6890946, essv6724134, essv6795644, essv6668028, essv6765546, essv6752293
SamplesSSM036, SSM008, SSM083, SSM071, SSM045, SSM079, SSM097, SSM042, SSM041, SSM057, SSM023, SSM084, SSM069, SSM029, SSM026, SSM019, SSM031, SSM044, SSM068, SSM072, SSM082, SSM080, SSM037, SSM077, SSM004, SSM030, SSM063
Known GenesWDR37
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)esv2729439
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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