A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15595183



Internal ID2545631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4995007..4995879hg38UCSC Ensembl
Innerchr17:4995053..4995834hg38UCSC Ensembl
Outerchr17:4994962..4995925hg38UCSC Ensembl
chr17:4898302..4899174hg19UCSC Ensembl
Innerchr17:4898348..4899129hg19UCSC Ensembl
Outerchr17:4898257..4899220hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639799
Supporting Variants
SamplesHG02260
Known GenesINCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15595183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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