A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11648576



Internal ID2607881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148196417..148199657hg38UCSC Ensembl
Innerchr4:148196467..148199607hg38UCSC Ensembl
Outerchr4:148196355..148199719hg38UCSC Ensembl
chr4:149117568..149120808hg19UCSC Ensembl
Innerchr4:149117618..149120758hg19UCSC Ensembl
Outerchr4:149117506..149120870hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg383241
hg193241
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602616
Supporting Variants
SamplesHG02309
Known GenesNR3C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11648576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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