A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11430699



Internal ID2256615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:51951703..51971534hg38UCSC Ensembl
Innerchr4:51951703..51971534hg38UCSC Ensembl
Outerchr4:51951203..51972034hg38UCSC Ensembl
chr4:52817869..52837700hg19UCSC Ensembl
Innerchr4:52817869..52837700hg19UCSC Ensembl
Outerchr4:52817369..52838200hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3819832
hg1919832
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600485
Supporting Variants
SamplesHG02019
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11430699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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