A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614987



Internal ID6655188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128748866..128749907hg38UCSC Ensembl
Innerchr7:128748866..128749907hg38UCSC Ensembl
Outerchr7:128748676..128750082hg38UCSC Ensembl
chr7:128388920..128389961hg19UCSC Ensembl
Innerchr7:128388920..128389961hg19UCSC Ensembl
Outerchr7:128388730..128390136hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12966233
SamplesHG02308
Known GenesCALU
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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