A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608758



Internal ID6995682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39367531..39371913hg38UCSC Ensembl
Innerchr6:39367531..39371913hg38UCSC Ensembl
Outerchr6:39367286..39372166hg38UCSC Ensembl
chr6:39335307..39339689hg19UCSC Ensembl
Innerchr6:39335307..39339689hg19UCSC Ensembl
Outerchr6:39335062..39339942hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384383
hg194383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12323138, essv12323137, essv12323135, essv12323136, essv12323139, essv12323134
SamplesHG02716, HG01882, HG03078, NA18865, HG02771, HG02052
Known GenesKIF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608758
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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