A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10887617



Internal ID6525151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238552903..238564983hg38UCSC Ensembl
Innerchr2:238552908..238564978hg38UCSC Ensembl
Outerchr2:238552898..238564988hg38UCSC Ensembl
chr2:239461544..239473624hg19UCSC Ensembl
Innerchr2:239461549..239473619hg19UCSC Ensembl
Outerchr2:239461539..239473629hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3812081
hg1912081
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594765
Supporting Variants
SamplesNA20543
Known GenesLINC01107
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10887617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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