A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15715636



Internal ID5717452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60502493..60503916hg38UCSC Ensembl
Innerchr17:60502494..60503916hg38UCSC Ensembl
Outerchr17:60502493..60503917hg38UCSC Ensembl
chr17:58579854..58581277hg19UCSC Ensembl
Innerchr17:58579855..58581277hg19UCSC Ensembl
Outerchr17:58579854..58581278hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381424
hg191424
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640927
Supporting Variants
SamplesHG02580
Known GenesAPPBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15715636
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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