A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587164



Internal ID6627471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110333510..110336271hg38UCSC Ensembl
Innerchr1:110333529..110336253hg38UCSC Ensembl
Outerchr1:110333492..110336290hg38UCSC Ensembl
chr1:110876132..110878893hg19UCSC Ensembl
Innerchr1:110876151..110878875hg19UCSC Ensembl
Outerchr1:110876114..110878912hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382762
hg192762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10061226, essv10061227
SamplesHG03910, NA21095
Known GenesLOC440600
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587164
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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