A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593531



Internal ID6980855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180568694..180570114hg38UCSC Ensembl
Innerchr2:180568710..180570099hg38UCSC Ensembl
Outerchr2:180568679..180570130hg38UCSC Ensembl
chr2:181433421..181434841hg19UCSC Ensembl
Innerchr2:181433437..181434826hg19UCSC Ensembl
Outerchr2:181433406..181434857hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381421
hg191421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10785706, essv10785705
SamplesNA18988, HG02588
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593531
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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