A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13802483



Internal ID3804299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50422145..50430037hg38UCSC Ensembl
Innerchr10:50422145..50430037hg38UCSC Ensembl
Outerchr10:50421861..50430317hg38UCSC Ensembl
chr10:52181905..52189797hg19UCSC Ensembl
Innerchr10:52181905..52189797hg19UCSC Ensembl
Outerchr10:52181621..52190077hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg387893
hg197893
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623201
Supporting Variants
SamplesHG00476
Known GenesSGMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13802483
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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