A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13870272



Internal ID1288420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79876627..79978510hg38UCSC Ensembl
chr10:81636383..81738266hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38101884
hg19101884
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623930
Supporting Variants
SamplesHG01133
Known GenesLOC100288974, MBL1P, SFTPD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13870272
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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