A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613907



Internal ID6654115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82372925..82379044hg38UCSC Ensembl
Innerchr7:82372925..82379044hg38UCSC Ensembl
Outerchr7:82372425..82379544hg38UCSC Ensembl
chr7:82002241..82008360hg19UCSC Ensembl
Innerchr7:82002241..82008360hg19UCSC Ensembl
Outerchr7:82001741..82008860hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg386120
hg196120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12869510
SamplesNA18488
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613907
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer