A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591042



Internal ID6978370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62508714..62534329hg38UCSC Ensembl
Innerchr2:62508864..62534179hg38UCSC Ensembl
Outerchr2:62508564..62534479hg38UCSC Ensembl
chr2:62735849..62761464hg19UCSC Ensembl
Innerchr2:62735999..62761314hg19UCSC Ensembl
Outerchr2:62735699..62761614hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3825616
hg1925616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv703e214
Supporting Variantsessv10522162, essv10522157, essv10522158, essv10522160, essv10522163, essv10522156, essv10522159, essv10522161
SamplesNA19355, NA19437, NA19449, NA19338, NA19321, NA19473, NA19351, NA19431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591042
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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