A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594631



Internal ID6981951
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10876671
SamplesHG02236
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594631
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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