A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892836



Internal ID19183656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:82351804..83001127hg38UCSC Ensembl
Outerchr2:82351804..83001127hg38UCSC Ensembl
Innerchr2:82578928..83228251hg19UCSC Ensembl
Outerchr2:82578928..83228251hg19UCSC Ensembl
Innerchr2:82432439..83081762hg18UCSC Ensembl
Outerchr2:82432439..83081762hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38649324
hg19649324
hg18649324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796136
Samples
Known GenesLOC1720
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892836
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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