A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608736



Internal ID6995660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38316607..38418263hg38UCSC Ensembl
Innerchr6:38316607..38418263hg38UCSC Ensembl
Outerchr6:38316107..38418763hg38UCSC Ensembl
chr6:38284383..38386039hg19UCSC Ensembl
Innerchr6:38284383..38386039hg19UCSC Ensembl
Outerchr6:38283883..38386539hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38101657
hg19101657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12322531
SamplesNA21111
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608736
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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