A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15613377



Internal ID3791754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12916368..12919427hg38UCSC Ensembl
Innerchr17:12916418..12919377hg38UCSC Ensembl
Outerchr17:12916318..12919477hg38UCSC Ensembl
chr17:12819685..12822744hg19UCSC Ensembl
Innerchr17:12819735..12822694hg19UCSC Ensembl
Outerchr17:12819635..12822794hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383060
hg193060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639982
Supporting Variants
SamplesHG03439
Known GenesARHGAP44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15613377
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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