A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12601129



Internal ID4571531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:156990385..156998701hg38UCSC Ensembl
Innerchr6:156990414..156998673hg38UCSC Ensembl
Outerchr6:156990357..156998730hg38UCSC Ensembl
chr6:157311519..157319835hg19UCSC Ensembl
Innerchr6:157311548..157319807hg19UCSC Ensembl
Outerchr6:157311491..157319864hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg388317
hg198317
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611366
Supporting Variants
SamplesHG04076
Known GenesARID1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12601129
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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