A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608815



Internal ID6649048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43630673..43633018hg38UCSC Ensembl
Innerchr6:43630673..43633018hg38UCSC Ensembl
Outerchr6:43630558..43633179hg38UCSC Ensembl
chr6:43598410..43600755hg19UCSC Ensembl
Innerchr6:43598410..43600755hg19UCSC Ensembl
Outerchr6:43598295..43600916hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382346
hg192346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12330470
SamplesNA19072
Known GenesMAD2L1BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608815
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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