A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499510



Internal ID2322766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108077951..108082700hg38UCSC Ensembl
Innerchr6:108077962..108082689hg38UCSC Ensembl
Outerchr6:108077940..108082711hg38UCSC Ensembl
chr6:108399155..108403904hg19UCSC Ensembl
Innerchr6:108399166..108403893hg19UCSC Ensembl
Outerchr6:108399144..108403915hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384750
hg194750
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610309
Supporting Variants
SamplesHG02069
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499510
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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