A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733671



Internal ID9967995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:889789..890360hg38UCSC Ensembl
Outerchr7:929426..929997hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6901585, essv6934928, essv6762746, essv6934927
SamplesSSM002, SSM021, SSM062
Known GenesGET4
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)esv2733671
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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