A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611781



Internal ID6998685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:532223..533578hg38UCSC Ensembl
Innerchr7:532258..533543hg38UCSC Ensembl
Outerchr7:532188..533613hg38UCSC Ensembl
chr7:571860..573215hg19UCSC Ensembl
Innerchr7:571895..573180hg19UCSC Ensembl
Outerchr7:571825..573250hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381356
hg191356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12657815, essv12657814
SamplesHG01345, HG03376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611781
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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