A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15711838



Internal ID5713654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59695262..59696664hg38UCSC Ensembl
Innerchr17:59695295..59696632hg38UCSC Ensembl
Outerchr17:59695230..59696697hg38UCSC Ensembl
chr17:57772623..57774025hg19UCSC Ensembl
Innerchr17:57772656..57773993hg19UCSC Ensembl
Outerchr17:57772591..57774058hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg381403
hg191403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640909
Supporting Variants
SamplesHG01861
Known GenesCLTC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15711838
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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