A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527195



Internal ID1529011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87153881..87233094hg38UCSC Ensembl
Innerchr4:87153881..87233094hg38UCSC Ensembl
Outerchr4:87153381..87233594hg38UCSC Ensembl
chr4:88075033..88154246hg19UCSC Ensembl
Innerchr4:88075033..88154246hg19UCSC Ensembl
Outerchr4:88074533..88154746hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3879214
hg1979214
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601265
Supporting Variants
SamplesHG03240
Known GenesKLHL8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11527195
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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