A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11384254



Internal ID1903965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30873724..30885416hg38UCSC Ensembl
Innerchr4:30873724..30885416hg38UCSC Ensembl
Outerchr4:30873224..30885916hg38UCSC Ensembl
chr4:30875346..30887038hg19UCSC Ensembl
Innerchr4:30875346..30887038hg19UCSC Ensembl
Outerchr4:30874846..30887538hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3811693
hg1911693
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600076
Supporting Variants
SamplesHG01786
Known GenesPCDH7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11384254
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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