A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10876671



Internal ID2522882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231694238..231702003hg38UCSC Ensembl
Innerchr2:231694238..231702003hg38UCSC Ensembl
Outerchr2:231694186..231702043hg38UCSC Ensembl
chr2:232558948..232566713hg19UCSC Ensembl
Innerchr2:232558948..232566713hg19UCSC Ensembl
Outerchr2:232558896..232566753hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387766
hg197766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594631
Supporting Variants
SamplesHG02236
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10876671
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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