A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752164



Internal ID12985716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:61283174..63840872hg38UCSC Ensembl
Innerchr7:61265899..63301250hg19UCSC Ensembl
Innerchr7:61269841..62938685hg18UCSC Ensembl
Innerchr7:61076556..62745400hg17UCSC Ensembl
Cytoband7q11.1
Allele length
AssemblyAllele length
hg382557699
hg192035352
hg181668845
hg171668845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981187, essv6981185, essv6985509, essv6981186
SamplesBEC_361
Known GenesLOC100287704, LOC100287834, MIR4283-1, MIR4283-2, 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)esv2752164
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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