A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643520



Internal ID6683591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4974083..4976249hg38UCSC Ensembl
Innerchr19:4974083..4976249hg38UCSC Ensembl
Outerchr19:4973754..4976540hg38UCSC Ensembl
chr19:4974094..4976260hg19UCSC Ensembl
Innerchr19:4974094..4976260hg19UCSC Ensembl
Outerchr19:4973765..4976551hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382167
hg192167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15982259, essv15982269, essv15982260, essv15982280, essv15982264, essv15982279, essv15982272, essv15982266, essv15982278, essv15982261, essv15982262, essv15982258, essv15982274, essv15982271, essv15982273, essv15982270, essv15982265, essv15982276, essv15982263, essv15982275, essv15982277, essv15982268, essv15982267
SamplesHG02122, HG01794, NA18550, NA18994, NA18625, HG01851, HG01867, HG00867, HG02151, NA18954, HG00766, HG02031, NA18564, NA18613, HG00458, NA18940, HG00590, HG02351, NA18565, NA18944, HG04177, HG02353, HG01857
Known GenesKDM4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643520
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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