A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34298



Internal ID12990337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16212129..16284560hg38UCSC Ensembl
Innerchr7:16251754..16324185hg19UCSC Ensembl
Innerchr7:16218279..16290710hg18UCSC Ensembl
Innerchr7:16024994..16097425hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3872432
hg1972432
hg1872432
hg1772432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979756, essv6979755, essv6988239
SamplesNA18621
Known GenesISPD, ISPD-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34298
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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