A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11538631



Internal ID2654409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94269093..94270127hg38UCSC Ensembl
Innerchr4:94269093..94270127hg38UCSC Ensembl
Outerchr4:94268903..94270310hg38UCSC Ensembl
chr4:95190244..95191278hg19UCSC Ensembl
Innerchr4:95190244..95191278hg19UCSC Ensembl
Outerchr4:95190054..95191461hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601447
Supporting Variants
SamplesHG02348
Known GenesSMARCAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11538631
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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