A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12479367



Internal ID2481183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99898771..99938097hg38UCSC Ensembl
chr6:100346647..100385973hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3839327
hg1939327
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610130
Supporting Variants
SamplesNA19700
Known GenesMCHR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12479367
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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