A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11521852



Internal ID1523668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:84624349..84625894hg38UCSC Ensembl
Innerchr4:84624356..84625887hg38UCSC Ensembl
Outerchr4:84624342..84625901hg38UCSC Ensembl
chr4:85545502..85547047hg19UCSC Ensembl
Innerchr4:85545509..85547040hg19UCSC Ensembl
Outerchr4:85545495..85547054hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381546
hg191546
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601225
Supporting Variants
SamplesNA19397
Known GenesCDS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11521852
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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