A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733331



Internal ID10316967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168283764..168284465hg38UCSC Ensembl
Outerchr6:168684444..168685145hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715684, essv6694328, essv6833913, essv6830318, essv6915197, essv6799023, essv6680531, essv6969528, essv6930051, essv6667647, essv6814463, essv6786544, essv6671358, essv6855447, essv6887131, essv6975052, essv6826557, essv6802683, essv6903860
SamplesSSM087, SSM013, SSM073, SSM028, SSM069, SSM029, SSM096, SSM003, SSM031, SSM033, SSM081, SSM072, SSM082, SSM016, SSM080, SSM037, SSM077, SSM043, SSM030
Known Genes
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)esv2733331
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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