A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11429532



Internal ID6220384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48709118..48719546hg38UCSC Ensembl
Innerchr4:48709118..48719546hg38UCSC Ensembl
Outerchr4:48708618..48720046hg38UCSC Ensembl
chr4:48711135..48721563hg19UCSC Ensembl
Innerchr4:48711135..48721563hg19UCSC Ensembl
Outerchr4:48710635..48722063hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3810429
hg1910429
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600466
Supporting Variants
SamplesNA19747
Known GenesFRYL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11429532
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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