A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639692



Internal ID6679782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1599518..1603669hg38UCSC Ensembl
Innerchr17:1599518..1603669hg38UCSC Ensembl
Outerchr17:1599291..1603910hg38UCSC Ensembl
chr17:1502812..1506963hg19UCSC Ensembl
Innerchr17:1502812..1506963hg19UCSC Ensembl
Outerchr17:1502585..1507204hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384152
hg194152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15580924, essv15580926, essv15580922, essv15580925, essv15580923, essv15580928, essv15580927, essv15580929, essv15580920, essv15580921
SamplesNA19315, HG03135, NA19404, HG02562, HG01080, HG02716, HG03391, HG03354, HG03108, HG00553
Known GenesSLC43A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639692
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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