A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600582



Internal ID6987624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56670805..56672354hg38UCSC Ensembl
Innerchr4:56670835..56672325hg38UCSC Ensembl
Outerchr4:56670776..56672384hg38UCSC Ensembl
chr4:57536971..57538520hg19UCSC Ensembl
Innerchr4:57537001..57538491hg19UCSC Ensembl
Outerchr4:57536942..57538550hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381550
hg191550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11441722, essv11441719, essv11441717, essv11441715, essv11441718, essv11441700, essv11441704, essv11441695, essv11441713, essv11441703, essv11441712, essv11441692, essv11441696, essv11441714, essv11441705, essv11441697, essv11441721, essv11441708, essv11441709, essv11441701, essv11441699, essv11441716, essv11441710, essv11441698, essv11441693, essv11441702, essv11441694, essv11441707, essv11441720, essv11441711, essv11441706
SamplesHG03514, NA19394, HG02574, NA19701, HG02610, HG02836, HG03115, HG02804, HG03455, NA18504, NA19190, HG03086, HG02860, HG03578, NA19404, HG02634, HG03061, NA19152, HG02511, HG01948, HG02577, NA19380, HG03433, HG03442, HG03066, HG02676, HG03077, HG03376, NA18522, HG03303, HG03196
Known GenesHOPX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600582
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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