A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34968



Internal ID12991004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:61283174..63445751hg38UCSC Ensembl
Innerchr7:61265899..62906129hg19UCSC Ensembl
Innerchr7:61269841..62543564hg18UCSC Ensembl
Innerchr7:61076556..62350279hg17UCSC Ensembl
Cytoband7q11.1
Allele length
AssemblyAllele length
hg382162578
hg191640231
hg181273724
hg171273724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv225e55
Supporting Variantsessv6986633, essv6978495, essv6978494, essv6986634
SamplesNA19120
Known GenesLOC100287704, LOC100287834, ZNF733P
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34968
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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