A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591017



Internal ID6978345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61410031..61410653hg38UCSC Ensembl
Innerchr2:61410035..61410650hg38UCSC Ensembl
Outerchr2:61410028..61410657hg38UCSC Ensembl
chr2:61637166..61637788hg19UCSC Ensembl
Innerchr2:61637170..61637785hg19UCSC Ensembl
Outerchr2:61637163..61637792hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10519565, essv10519566, essv10519563, essv10519561, essv10519562, essv10519564
SamplesHG03548, HG03237, NA18870, HG03814, HG03084, HG03196
Known GenesUSP34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591017
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer