A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619387



Internal ID7006265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5750043..5751621hg38UCSC Ensembl
Innerchr9:5750043..5751621hg38UCSC Ensembl
Outerchr9:5749691..5751911hg38UCSC Ensembl
chr9:5750043..5751621hg19UCSC Ensembl
Innerchr9:5750043..5751621hg19UCSC Ensembl
Outerchr9:5749691..5751911hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381579
hg191579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13385721, essv13385709, essv13385688, essv13385694, essv13385702, essv13385704, essv13385718, essv13385714, essv13385703, essv13385698, essv13385722, essv13385684, essv13385720, essv13385700, essv13385719, essv13385696, essv13385686, essv13385710, essv13385708, essv13385697, essv13385716, essv13385705, essv13385706, essv13385712, essv13385692, essv13385699, essv13385690, essv13385707, essv13385701, essv13385715, essv13385713, essv13385687, essv13385693, essv13385695, essv13385711, essv13385691, essv13385717, essv13385685, essv13385689
SamplesHG02614, HG02496, HG03521, HG03280, HG03190, NA18878, HG03515, NA20356, NA19920, HG03099, HG03135, HG02645, HG03079, HG02505, HG02703, HG02573, NA19471, NA19451, NA19200, HG03169, HG02716, NA18934, HG02554, NA19982, HG02953, HG02014, HG02968, HG03446, HG03046, HG02255, HG03028, NA19434, NA19310, HG02558, NA19117, HG02974, HG03470, NA19129, HG03129
Known GenesKIAA1432
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619387
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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