A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752187



Internal ID12639053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88546210..89018672hg38UCSC Ensembl
Innerchr7:88175525..88647986hg19UCSC Ensembl
Innerchr7:88013461..88485922hg18UCSC Ensembl
Innerchr7:87820176..88292637hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38472463
hg19472462
hg18472462
hg17472462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985067, essv6987145, essv6985066, essv6987146, essv6988887
SamplesBEC_9
Known GenesC7orf62, ZNF804B
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)esv2752187
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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