A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592544



Internal ID6979871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133854342..133856021hg38UCSC Ensembl
Innerchr2:133854342..133856021hg38UCSC Ensembl
Outerchr2:133854161..133856198hg38UCSC Ensembl
chr2:134611913..134613592hg19UCSC Ensembl
Innerchr2:134611913..134613592hg19UCSC Ensembl
Outerchr2:134611732..134613769hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg381680
hg191680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10680855, essv10680857, essv10680856, essv10680854, essv10680858
SamplesHG01771, HG02236, NA20815, HG01205, HG01618
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592544
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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