A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929432



Internal ID6554725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52903549..52904164hg38UCSC Ensembl
Innerchr1:52903558..52904155hg38UCSC Ensembl
Outerchr1:52903540..52904173hg38UCSC Ensembl
chr1:53369221..53369836hg19UCSC Ensembl
Innerchr1:53369230..53369827hg19UCSC Ensembl
Outerchr1:53369212..53369845hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586056
Supporting Variants
SamplesHG02104
Known GenesECHDC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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