A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11674739



Internal ID2777655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:163638924..163642028hg38UCSC Ensembl
Innerchr4:163638925..163642027hg38UCSC Ensembl
Outerchr4:163638923..163642029hg38UCSC Ensembl
chr4:164560076..164563180hg19UCSC Ensembl
Innerchr4:164560077..164563179hg19UCSC Ensembl
Outerchr4:164560075..164563181hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg383105
hg193105
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602964
Supporting Variants
SamplesHG02450
Known GenesMARCH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11674739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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