A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5954759



Internal ID9871755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238552936..238564882hg38UCSC Ensembl
Outerchr2:238552779..238565035hg38UCSC Ensembl
Innerchr2:239461577..239473523hg19UCSC Ensembl
Outerchr2:239461420..239473676hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3812257
hg1912257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660970
Supporting Variants
SamplesNA20543
Known GenesLINC01107
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5954759
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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