A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613716



Internal ID7000612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74665366..74674602hg38UCSC Ensembl
Innerchr7:74665366..74674602hg38UCSC Ensembl
Outerchr7:74664866..74675102hg38UCSC Ensembl
chr7:74079698..74088926hg19UCSC Ensembl
Innerchr7:74079698..74088926hg19UCSC Ensembl
Outerchr7:74079198..74089426hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389237
hg199229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12845478, essv12845477
SamplesNA19917, NA19001
Known GenesGTF2I
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613716
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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