A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11455205



Internal ID891464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:61749435..61765542hg38UCSC Ensembl
Innerchr4:61749456..61765521hg38UCSC Ensembl
Outerchr4:61749414..61765563hg38UCSC Ensembl
chr4:62615153..62631260hg19UCSC Ensembl
Innerchr4:62615174..62631239hg19UCSC Ensembl
Outerchr4:62615132..62631281hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3816108
hg1916108
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600690
Supporting Variants
SamplesHG00479
Known GenesLPHN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11455205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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