A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613417



Internal ID7000313
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12811265, essv12811266
SamplesNA18939, NA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613417
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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