A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613035



Internal ID6999933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46214317..46216626hg38UCSC Ensembl
Innerchr7:46214317..46216626hg38UCSC Ensembl
Outerchr7:46214046..46216843hg38UCSC Ensembl
chr7:46253915..46256224hg19UCSC Ensembl
Innerchr7:46253915..46256224hg19UCSC Ensembl
Outerchr7:46253644..46256441hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg382310
hg192310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12758344, essv12758347, essv12758346, essv12758345
SamplesHG03668, HG02395, HG02113, HG00437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613035
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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