A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600957



Internal ID6987996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71804958..71808907hg38UCSC Ensembl
chr4:72670675..72674624hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg383950
hg193950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11494771, essv11494779, essv11494777, essv11494773, essv11494776, essv11494784, essv11494785, essv11494770, essv11494783, essv11494780, essv11494786, essv11494787, essv11494774, essv11494772, essv11494778, essv11494782, essv11494775, essv11494781
SamplesNA11933, HG03607, HG00327, HG01250, HG00160, HG01058, HG00323, NA12748, HG01879, HG01447, HG01311, HG00273, HG01988, NA06986, HG01577, HG00378, HG00345, NA21120
Known GenesGC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600957
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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