A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734179



Internal ID9968506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29002731..29003345hg38UCSC Ensembl
Outerchr7:29042347..29042961hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845140, essv6927019, essv6849469, essv6694436, essv6751784, essv6746104, essv6778429
SamplesSSM057, SSM019, SSM067, SSM086, SSM085, SSM037, SSM055
Known GenesCPVL, LOC100506497
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)esv2734179
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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