A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12580971



Internal ID1104351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149650426..149654475hg38UCSC Ensembl
Innerchr6:149650426..149654475hg38UCSC Ensembl
Outerchr6:149649926..149654975hg38UCSC Ensembl
chr6:149971562..149975611hg19UCSC Ensembl
Innerchr6:149971562..149975611hg19UCSC Ensembl
Outerchr6:149971062..149976111hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg384050
hg194050
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611211
Supporting Variants
SamplesHG00734
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12580971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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