A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499700



Internal ID5793376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108757175..108762009hg38UCSC Ensembl
Innerchr6:108757175..108762009hg38UCSC Ensembl
Outerchr6:108757016..108762206hg38UCSC Ensembl
chr6:109078378..109083212hg19UCSC Ensembl
Innerchr6:109078378..109083212hg19UCSC Ensembl
Outerchr6:109078219..109083409hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384835
hg194835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610326
Supporting Variants
SamplesNA19159
Known GenesLINC00222
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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