A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9978103



Internal ID6603396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75796508..75799098hg38UCSC Ensembl
Innerchr1:75796536..75799070hg38UCSC Ensembl
Outerchr1:75796480..75799126hg38UCSC Ensembl
chr1:76262193..76264783hg19UCSC Ensembl
Innerchr1:76262221..76264755hg19UCSC Ensembl
Outerchr1:76262165..76264811hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382591
hg192591
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586491
Supporting Variants
SamplesHG01363
Known GenesMSH4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9978103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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