A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984648



Internal ID12983277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101294727..101483000hg38UCSC Ensembl
Innerchr7:100938008..101126281hg19UCSC Ensembl
Innerchr7:100724728..100913001hg18UCSC Ensembl
Innerchr7:100531443..100719716hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38188274
hg19188274
hg18188274
hg17188274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752137
Supporting Variants
SamplesSPC_162
Known GenesCOL26A1, RABL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984648
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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