A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614387



Internal ID6654593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104131799..104134418hg38UCSC Ensembl
Innerchr7:104131799..104134418hg38UCSC Ensembl
Outerchr7:104131384..104134680hg38UCSC Ensembl
chr7:103772246..103774865hg19UCSC Ensembl
Innerchr7:103772246..103774865hg19UCSC Ensembl
Outerchr7:103771831..103775127hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382620
hg192620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12913151, essv12913152, essv12913150, essv12913153, essv12913154, essv12913149, essv12913155, essv12913148
SamplesNA18508, HG02973, NA20299, HG01990, HG02772, HG01915, HG02095, HG02938
Known GenesORC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614387
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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