A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611440



Internal ID6998349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160580926..160583200hg38UCSC Ensembl
Innerchr6:160580945..160583182hg38UCSC Ensembl
Outerchr6:160580908..160583219hg38UCSC Ensembl
chr6:161001958..161004232hg19UCSC Ensembl
Innerchr6:161001977..161004214hg19UCSC Ensembl
Outerchr6:161001940..161004251hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12612169, essv12612168, essv12612170
SamplesHG00108, HG01607, HG00256
Known GenesLPA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611440
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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