A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639982



Internal ID7026760
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15613378, essv15613379, essv15613377
SamplesHG03452, HG03458, HG03439
Known GenesARHGAP44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639982
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer