A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734298



Internal ID9968625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:39347650..39348285hg38UCSC Ensembl
Outerchr7:39387249..39387884hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802748, essv6834007, essv6964135, essv6715769, essv6939281, essv6719659, essv6903946
SamplesSSM022, SSM027, SSM013, SSM082, SSM043, SSM073, SSM044
Known GenesPOU6F2
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)esv2734298
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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