A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614380



Internal ID7001274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103625669..103627695hg38UCSC Ensembl
Innerchr7:103625671..103627693hg38UCSC Ensembl
Outerchr7:103625667..103627697hg38UCSC Ensembl
chr7:103266116..103268142hg19UCSC Ensembl
Innerchr7:103266118..103268140hg19UCSC Ensembl
Outerchr7:103266114..103268144hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382027
hg192027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12913127, essv12913129, essv12913130, essv12913140, essv12913126, essv12913141, essv12913134, essv12913132, essv12913136, essv12913137, essv12913135, essv12913131, essv12913139, essv12913133, essv12913128, essv12913138
SamplesNA11830, NA12286, NA12045, HG00181, NA20805, HG03999, NA12413, HG00109, HG04144, NA20769, HG00266, HG02793, HG01777, HG00250, NA20534, HG00375
Known GenesRELN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614380
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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