A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613520



Internal ID6653729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66748771..66896312hg38UCSC Ensembl
Innerchr7:66748921..66896162hg38UCSC Ensembl
Outerchr7:66748621..66896462hg38UCSC Ensembl
chr7:66213758..66361299hg19UCSC Ensembl
Innerchr7:66213908..66361149hg19UCSC Ensembl
Outerchr7:66213608..66361449hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38147542
hg19147542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12819380, essv12819381, essv12819382
SamplesHG01356, HG01140, HG01351
Known GenesGTF2IRD1P1, RABGEF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613520
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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