A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527643



Internal ID3644218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87522419..87588669hg38UCSC Ensembl
chr4:88443571..88509821hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3866251
hg1966251
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601279
Supporting Variants
SamplesHG03240
Known GenesSPARCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11527643
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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