A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10815733



Internal ID2665740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197028626..197031191hg38UCSC Ensembl
Innerchr2:197028629..197031189hg38UCSC Ensembl
Outerchr2:197028624..197031194hg38UCSC Ensembl
chr2:197893350..197895915hg19UCSC Ensembl
Innerchr2:197893353..197895913hg19UCSC Ensembl
Outerchr2:197893348..197895918hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382566
hg192566
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593899
Supporting Variants
SamplesHG02360
Known GenesANKRD44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10815733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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