A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608318



Internal ID6995248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21890041..21896531hg38UCSC Ensembl
Innerchr6:21890082..21896491hg38UCSC Ensembl
Outerchr6:21890001..21896572hg38UCSC Ensembl
chr6:21890272..21896762hg19UCSC Ensembl
Innerchr6:21890313..21896722hg19UCSC Ensembl
Outerchr6:21890232..21896803hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386491
hg196491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1170e214
Supporting Variantsessv12220254
SamplesNA19473
Known GenesCASC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608318
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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