A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989353



Internal ID12975009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:82628696..82692196hg38UCSC Ensembl
Innerchr1:83094379..83157879hg19UCSC Ensembl
Innerchr1:82866967..82930467hg18UCSC Ensembl
Innerchr1:82806400..82869900hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3863501
hg1963501
hg1863501
hg1763501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750841
Supporting Variants
SamplesBEC_557
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989353
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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