A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10875221



Internal ID5839934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230699710..230702938hg38UCSC Ensembl
Innerchr2:230699710..230702938hg38UCSC Ensembl
Outerchr2:230699455..230703298hg38UCSC Ensembl
chr2:231564425..231567653hg19UCSC Ensembl
Innerchr2:231564425..231567653hg19UCSC Ensembl
Outerchr2:231564170..231568013hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383229
hg193229
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594610
Supporting Variants
SamplesNA19213
Known GenesLOC151475
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10875221
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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