A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10423239



Internal ID3146545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18955403..18961253hg38UCSC Ensembl
Innerchr2:18955403..18961253hg38UCSC Ensembl
Outerchr2:18955232..18961403hg38UCSC Ensembl
chr2:19136681..19142531hg19UCSC Ensembl
Innerchr2:19136681..19142531hg19UCSC Ensembl
Outerchr2:19136510..19142681hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg385851
hg195851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589978
Supporting Variants
SamplesHG02772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10423239
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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