A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179301



Internal ID2622491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3884967..3887228hg38UCSC Ensembl
Innerchr6:3884967..3887228hg38UCSC Ensembl
Outerchr6:3884853..3887317hg38UCSC Ensembl
chr6:3885201..3887462hg19UCSC Ensembl
Innerchr6:3885201..3887462hg19UCSC Ensembl
Outerchr6:3885087..3887551hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382262
hg192262
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607936
Supporting Variants
SamplesHG02318
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179301
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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