A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588721



Internal ID6976137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210608146..210611643hg38UCSC Ensembl
Innerchr1:210608164..210611626hg38UCSC Ensembl
Outerchr1:210608129..210611661hg38UCSC Ensembl
chr1:210781490..210784987hg19UCSC Ensembl
Innerchr1:210781508..210784970hg19UCSC Ensembl
Outerchr1:210781473..210785005hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383498
hg193498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285207, essv10285206
SamplesHG03385, HG03419
Known GenesHHAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588721
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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