A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10873552



Internal ID3246934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230248309..230252919hg38UCSC Ensembl
Innerchr2:230248459..230252769hg38UCSC Ensembl
Outerchr2:230248159..230253069hg38UCSC Ensembl
chr2:231113024..231117634hg19UCSC Ensembl
Innerchr2:231113174..231117484hg19UCSC Ensembl
Outerchr2:231112874..231117784hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384611
hg194611
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594598
Supporting Variants
SamplesHG02861
Known GenesSP140
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10873552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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