A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665532



Internal ID9931637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75095848..75096579hg38UCSC Ensembl
Outerchr17:75095691..75096732hg38UCSC Ensembl
Innerchr17:73091943..73092674hg19UCSC Ensembl
Outerchr17:73091786..73092827hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv567e199
Supporting Variantsessv6501948, essv6435517, essv6591568, essv6284686, essv6228709, essv5561815
SamplesNA19703, HG01066, NA19920, NA19711, NA19463, NA18487
Known GenesSLC16A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665532
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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