A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731977



Internal ID9966295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41737895..41738465hg38UCSC Ensembl
Outerchr6:41705633..41706203hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690471, essv6715536, essv6739977, essv6748752, essv6795621, essv6745938, essv6736962, essv6855235
SamplesSSM036, SSM087, SSM009, SSM050, SSM055, SSM043, SSM052, SSM056
Known GenesPGC
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)esv2731977
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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