A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11440222



Internal ID6567044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55642916..55830021hg38UCSC Ensembl
chr4:56509083..56696187hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38187106
hg19187105
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600560
Supporting Variants
SamplesNA20759
Known GenesLOC644145
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11440222
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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