A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732531



Internal ID9966850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104812945..104815958hg38UCSC Ensembl
Outerchr6:105260820..105263833hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg383014
hg193014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767606, essv6896825, essv6934808, essv6786469, essv6802628, essv6881481, essv6762691, essv6961929, essv6798939, essv6737021, essv6727186, essv6849239, essv6915131, essv6794733, essv6869819, essv6729531, essv6740041, essv6951980, essv6730951, essv6926879, essv6957123, essv6711912, essv6963837, essv6918909, essv6778270, essv6830239
SamplesSSM007, SSM027, SSM086, SSM099, SSM042, SSM090, SSM064, SSM025, SSM072, SSM071, SSM016, SSM067, SSM094, SSM050, SSM062, SSM017, SSM047, SSM073, SSM069, SSM021, SSM046, SSM019, SSM052, SSM004, SSM026, SSM081
Known GenesHACE1
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)esv2732531
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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