A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12811265



Internal ID5389341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:64511009..64516527hg38UCSC Ensembl
Innerchr7:64511009..64516527hg38UCSC Ensembl
Outerchr7:64510509..64517027hg38UCSC Ensembl
chr7:63971387..63976905hg19UCSC Ensembl
Innerchr7:63971387..63976905hg19UCSC Ensembl
Outerchr7:63970887..63977405hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg385519
hg195519
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613417
Supporting Variants
SamplesNA18939
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12811265
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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