A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639648



Internal ID7026426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:841901..849414hg38UCSC Ensembl
Innerchr17:841942..849373hg38UCSC Ensembl
Outerchr17:841860..849455hg38UCSC Ensembl
chr17:745141..752654hg19UCSC Ensembl
Innerchr17:745182..752613hg19UCSC Ensembl
Outerchr17:745100..752695hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387514
hg197514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15575935, essv15575934, essv15575933
SamplesNA20278, HG00182, HG02408
Known GenesNXN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639648
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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