A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613905



Internal ID6654113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82290684..82298220hg38UCSC Ensembl
Innerchr7:82291184..82297720hg38UCSC Ensembl
Outerchr7:82289684..82299220hg38UCSC Ensembl
chr7:81920000..81927536hg19UCSC Ensembl
Innerchr7:81920500..81927036hg19UCSC Ensembl
Outerchr7:81919000..81928536hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg387537
hg197537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12869036, essv12869032, essv12869023, essv12869037, essv12869030, essv12869027, essv12869024, essv12869025, essv12869038, essv12869033, essv12869031, essv12869035, essv12869029, essv12869022, essv12869034, essv12869026, essv12869028
SamplesHG01878, HG02166, NA18530, NA18952, NA18757, HG00632, HG01847, HG00421, NA18536, NA18641, HG00403, HG00407, HG00458, HG02085, NA18606, NA18599, NA18574
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613905
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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