A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593546



Internal ID6980870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181699072..181727589hg38UCSC Ensembl
Innerchr2:181699072..181727589hg38UCSC Ensembl
Outerchr2:181698572..181728089hg38UCSC Ensembl
chr2:182563799..182592316hg19UCSC Ensembl
Innerchr2:182563799..182592316hg19UCSC Ensembl
Outerchr2:182563299..182592816hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3828518
hg1928518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10787241
SamplesHG02016
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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