A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989128



Internal ID12980955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78024065..78189531hg38UCSC Ensembl
Innerchr2:78251191..78416657hg19UCSC Ensembl
Innerchr2:78104699..78270165hg18UCSC Ensembl
Innerchr2:78162846..78328312hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38165467
hg19165467
hg18165467
hg17165467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34750
Supporting Variants
SamplesNA18859
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989128
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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