A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600559



Internal ID6640821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55591411..55595825hg38UCSC Ensembl
Innerchr4:55591411..55595825hg38UCSC Ensembl
Outerchr4:55591267..55596009hg38UCSC Ensembl
chr4:56457578..56461992hg19UCSC Ensembl
Innerchr4:56457578..56461992hg19UCSC Ensembl
Outerchr4:56457434..56462176hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384415
hg194415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11440221, essv11440220
SamplesNA20759, HG00262
Known GenesNMU, PDCL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600559
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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