A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593529



Internal ID6980853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180522988..180528274hg38UCSC Ensembl
Innerchr2:180523000..180528263hg38UCSC Ensembl
Outerchr2:180522977..180528286hg38UCSC Ensembl
chr2:181387715..181393001hg19UCSC Ensembl
Innerchr2:181387727..181392990hg19UCSC Ensembl
Outerchr2:181387704..181393013hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg385287
hg195287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10785695
SamplesHG01348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593529
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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