A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15585971



Internal ID5841084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2832249..2850790hg38UCSC Ensembl
Innerchr17:2832749..2850290hg38UCSC Ensembl
Outerchr17:2831249..2851790hg38UCSC Ensembl
chr17:2735543..2754084hg19UCSC Ensembl
Innerchr17:2736043..2753584hg19UCSC Ensembl
Outerchr17:2734543..2755084hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3818542
hg1918542
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639728
Supporting Variants
SamplesNA19213
Known GenesRAP1GAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15585971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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