A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756587



Internal ID3972787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43843242..43867127hg38UCSC Ensembl
Innerchr7:43843242..43867127hg38UCSC Ensembl
Outerchr7:43842742..43867627hg38UCSC Ensembl
chr7:43882841..43906726hg19UCSC Ensembl
Innerchr7:43882841..43906726hg19UCSC Ensembl
Outerchr7:43882341..43907226hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3823886
hg1923886
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613002
Supporting Variants
SamplesHG03625
Known GenesMRPS24, URGCP-MRPS24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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