A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15722645



Internal ID1691399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63881125..63910810hg38UCSC Ensembl
Innerchr17:63881625..63910310hg38UCSC Ensembl
Outerchr17:63880125..63911810hg38UCSC Ensembl
chr17:61958485..61988170hg19UCSC Ensembl
Innerchr17:61958985..61987670hg19UCSC Ensembl
Outerchr17:61957485..61989170hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3829686
hg1929686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641012
Supporting Variants
SamplesHG01566
Known GenesCSH1, CSHL1, GH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15722645
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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