A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984649



Internal ID12983276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101352284..101483284hg38UCSC Ensembl
Innerchr7:100995565..101126565hg19UCSC Ensembl
Innerchr7:100782285..100913285hg18UCSC Ensembl
Innerchr7:100589000..100720000hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38131001
hg19131001
hg18131001
hg17131001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752137
Supporting Variants
SamplesSPC_162
Known GenesCOL26A1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984649
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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