A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604599



Internal ID6991627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32102570..32202633hg38UCSC Ensembl
chr5:32102676..32202739hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38100064
hg19100064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1086e214
Supporting Variantsessv11855194, essv11855195, essv11855152, essv11855164, essv11855168, essv11855163, essv11855156, essv11855155, essv11855166, essv11855146, essv11855149, essv11855171, essv11855176, essv11855190, essv11855174, essv11855148, essv11855191, essv11855159, essv11855180, essv11855165, essv11855188, essv11855158, essv11855187, essv11855160, essv11855186, essv11855182, essv11855145, essv11855185, essv11855169, essv11855151, essv11855189, essv11855175, essv11855179, essv11855172, essv11855181, essv11855154, essv11855170, essv11855184, essv11855178, essv11855167, essv11855161, essv11855153, essv11855192, essv11855150, essv11855147, essv11855173, essv11855193, essv11855183, essv11855177, essv11855162, essv11855157
SamplesNA18998, NA12717, NA20877, HG01773, NA18565, HG02375, HG00364, HG00566, NA18959, HG00341, NA18526, NA19068, HG04022, NA20287, HG03777, HG02138, NA18985, HG03709, NA18951, HG03785, HG02345, HG02380, NA20314, NA18637, NA19654, HG01094, HG02121, HG01613, HG03643, NA19752, HG00445, HG03940, NA20821, NA18632, HG03838, NA20520, NA19679, NA19759, HG01606, HG02401, HG03896, NA20849, HG04014, HG00342, HG01254, NA20807, NA18983, NA19755, NA19063, NA18562, HG00593
Known GenesGOLPH3, PDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604599
Frequency
Sample Size2504
Observed Gain51
Observed Loss0
Observed Complex0
Frequencyn/a


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