A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985284



Internal ID12636379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88548580..88750496hg38UCSC Ensembl
Innerchr7:88177895..88379810hg19UCSC Ensembl
Innerchr7:88015831..88217746hg18UCSC Ensembl
Innerchr7:87822546..88024461hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38201917
hg19201916
hg18201916
hg17201916
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985284
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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