A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591534



Internal ID6978862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85707649..85708018hg38UCSC Ensembl
Innerchr2:85707649..85708018hg38UCSC Ensembl
Outerchr2:85707368..85708335hg38UCSC Ensembl
chr2:85934772..85935141hg19UCSC Ensembl
Innerchr2:85934772..85935141hg19UCSC Ensembl
Outerchr2:85934491..85935458hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568878, essv10568877, essv10568876, essv10568880, essv10568873, essv10568875, essv10568879, essv10568874
SamplesHG00351, HG00315, HG01461, HG00282, HG00382, NA19679, HG00345, HG03955
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591534
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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