A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734234



Internal ID9968561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:33663171..33663591hg38UCSC Ensembl
Outerchr7:33702783..33703203hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6684203, essv6869951, essv6849482, essv6794902, essv6694445, essv6841469
SamplesSSM071, SSM084, SSM090, SSM086, SSM037, SSM034
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)esv2734234
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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