A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985282



Internal ID12636377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88546210..88698749hg38UCSC Ensembl
Innerchr7:88175525..88328063hg19UCSC Ensembl
Innerchr7:88013461..88165999hg18UCSC Ensembl
Innerchr7:87820176..87972714hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38152540
hg19152539
hg18152539
hg17152539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752188
Supporting Variants
SamplesSPC_136
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985282
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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