A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734222



Internal ID9968549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32735303..32738060hg38UCSC Ensembl
Outerchr7:32774915..32777672hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382758
hg192758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754734, essv6743334, essv6762908, essv6762774, essv6969373, essv6757555, essv6907800, essv6855574, essv6963306
SamplesSSM059, SSM008, SSM087, SSM058, SSM062, SSM001, SSM014, SSM053, SSM004
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)esv2734222
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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