A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640657



Internal ID7027432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45046487..45050846hg38UCSC Ensembl
Innerchr17:45046487..45050846hg38UCSC Ensembl
Outerchr17:45046320..45051075hg38UCSC Ensembl
chr17:43123855..43128214hg19UCSC Ensembl
Innerchr17:43123855..43128214hg19UCSC Ensembl
Outerchr17:43123688..43128443hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384360
hg194360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15680796, essv15680795, essv15680790, essv15680785, essv15680791, essv15680786, essv15680789, essv15680793, essv15680792, essv15680787, essv15680794, essv15680788
SamplesNA19443, HG01250, NA18519, HG02505, NA20355, HG02479, NA19982, HG02429, HG02010, HG02771, NA19116, NA18511
Known GenesDCAKD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640657
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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