A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15595174



Internal ID2908998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4854659..4859069hg38UCSC Ensembl
Innerchr17:4854671..4859057hg38UCSC Ensembl
Outerchr17:4854647..4859081hg38UCSC Ensembl
chr17:4757954..4762364hg19UCSC Ensembl
Innerchr17:4757966..4762352hg19UCSC Ensembl
Outerchr17:4757942..4762376hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg384411
hg194411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639796
Supporting Variants
SamplesHG02577
Known GenesMINK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15595174
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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