A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641257



Internal ID7028031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75095723..75096610hg38UCSC Ensembl
Innerchr17:75095970..75096511hg38UCSC Ensembl
Outerchr17:75095549..75096784hg38UCSC Ensembl
chr17:73091818..73092705hg19UCSC Ensembl
Innerchr17:73092065..73092606hg19UCSC Ensembl
Outerchr17:73091644..73092879hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38888
hg19888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15740514, essv15740518, essv15740515, essv15740524, essv15740519, essv15740511, essv15740512, essv15740516, essv15740523, essv15740517, essv15740513, essv15740520, essv15740521, essv15740522
SamplesHG02339, NA19703, HG03297, NA19920, NA18519, HG02562, NA19024, HG02879, HG03132, HG02554, NA18517, HG02839, NA19463, HG03196
Known GenesSLC16A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641257
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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