A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10694088



Internal ID3801409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:141844657..141846019hg38UCSC Ensembl
Innerchr2:141844657..141846019hg38UCSC Ensembl
Outerchr2:141844481..141846363hg38UCSC Ensembl
chr2:142602226..142603588hg19UCSC Ensembl
Innerchr2:142602226..142603588hg19UCSC Ensembl
Outerchr2:142602050..142603932hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg381363
hg191363
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592721
Supporting Variants
SamplesHG03446
Known GenesLRP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10694088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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