A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647523



Internal ID7034264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28987784..28991299hg38UCSC Ensembl
Innerchr22:28987784..28991299hg38UCSC Ensembl
Outerchr22:28987519..28991527hg38UCSC Ensembl
chr22:29383772..29387287hg19UCSC Ensembl
Innerchr22:29383772..29387287hg19UCSC Ensembl
Outerchr22:29383507..29387515hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg383516
hg193516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16397748, essv16397739, essv16397744, essv16397750, essv16397742, essv16397740, essv16397745, essv16397746, essv16397738, essv16397741, essv16397743, essv16397747, essv16397749
SamplesHG02614, NA18502, NA19819, HG02624, NA19314, HG02810, HG02562, HG02588, HG02882, HG02613, HG03117, HG02814, HG03401
Known GenesZNRF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647523
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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