A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613521



Internal ID6653730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66755218..66838078hg38UCSC Ensembl
chr7:66220205..66303065hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3882861
hg1982861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12819385, essv12819383, essv12819384
SamplesHG01356, HG01140, HG01351
Known GenesGTF2IRD1P1, RABGEF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613521
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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