A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10708781



Internal ID6097240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149060954..149062181hg38UCSC Ensembl
Innerchr2:149060954..149062181hg38UCSC Ensembl
Outerchr2:149060777..149062474hg38UCSC Ensembl
chr2:149917468..149918695hg19UCSC Ensembl
Innerchr2:149917468..149918695hg19UCSC Ensembl
Outerchr2:149917291..149918988hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg381228
hg191228
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592855
Supporting Variants
SamplesNA19474
Known GenesLYPD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10708781
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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